The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry.

2023-12

Fox, Lucy C

McQuilten, Zoe K

Firkin, Frank

Fox, Vanessa

Badoux, Xavier

Bajel, Ashish

Barbaro, Pasquale

Cole-Sinclair, Merrole F

Forsyth, Cecily

Gibson, John

Hiwase, Devendra K

Johnston, Anna

Mills, Anthony

Roncolato, Fernando

Sutherland, Robyn

Szer, Jeff

Ting, Stephen B

Vilcassim, Shahla

Young, Lauren

Waters, Neil A

Wood, Erica M

Aplastic anaemia

Inherited bone marrow failure

Inherited predisposition to haematological malignancy

Rare disease registry

Journal Article

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10.1016/j.beha.2023.101516

The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy. The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) aims to improve outcomes for all paediatric and adult patients with BMFS in Australia by describing the demographics, treatments (including supportive care) and outcomes, and serving as a resource for research and practice improvement.

link

Best Practice & Research. Clinical Haematology 2023-12; 36(4)

Best Practice & Research. Clinical Haematology

1532-1924